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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THBS4

Variant:p.N42D

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THBS4

NM_003248.6:p.N42D

hg38:chr5:80040112 A>G

Associated Papers

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Merlet AN et al.

Journal of Neuropathology and Experimental Neurology, 2025

41307411 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."